• Look of this sequence of letters:

ØTHEMANWASHOTANDRANFORHISHAT
• If we give this a 'reading frame' of 3 letters, it
becomes:
ØTHE MAN WAS HOT AND RAN FOR HIS HAT and it
makes sense.
• if we take out the S at the end of WAS (a deletion
mutation), it becomes:
ØTHE MAN WAH OTA NDR ANF ORH ISH AT and it
no longer makes sense.
• In genetic terms it is missense mutation.

by Abiyot G.
by Abiyot G.
 Chromosomal mutation/s
• is a mutation involving a long segment of DNA.
• occurs when there is any change in the
arrangement or structure of the chrs.
• occur most often during meiosis at crossing over
in prophase I.
• are much bigger events than point mutations and
usually result in the death of a cell.
• may also affect the whole organism.
Øe.g. if essential parts of the DNA are affected by
chromosomal mutations, a foetus may be aborted.

by Abiyot G.
Types of Chromosomal Mutations
• Most chromosomal mutations are either
Chromosomal Mutations I or Chromosomal
mutations II
• type I involve the processes of inversion, deletion,
duplication/amplification or translocation
• type II involves aneuploidy & polyploidy.
A. Chromosomal mutations I
• alter the structure of the chr since they tend to
break and these pieces often form sticky ends.
Inversion
• is a kind of mutations & its segments are reversed
from end to end.
• A piece of the chr is removed then reattached
but in the opposite direction than it was originally.
• When this does not include the center or the
centromere of the chr, it is called paracentric
inversion.
• When the inversion does include the centromere, it
is pericentric.
by A
Deletion biyot
G.
• Also known as partial monosomies
• occur when a piece of a chr accidentally gets
removed or deleted.
• when 1 piece deleted at the end->terminal deletion
• when 2 piece deleted - one deleted within the chr, and
one on the end -> interstitial deletion.
• when the deletions in the chrs are too small to be
detected -> Microdeletions by Abiyot G.
Duplication/ Amplifications
• An extra copy of a segment or the entire chr is
present in the nucleus.
• These are also known as partial trisomies.
• Often an organism that usually has 2 copies of a chr
will have 3 in the case of duplication.
Translocation
Øhappens when a segment of a chr breaks off and
then relocates to a different chr.
• This creates fusion chrs as one type of chr fuses
with another.
• Reciprocal translocation occurs when pieces of
chrs "swap" places.
• Robertsonian translocation occurs when a
segment of a chr is attached to another chr,
causmg an elongation of it.
ØThese can be balanced or unbalanced
• Balanced-where the chr is fully functional with no
missmg genetic information by Abiyot G.
• Unbalanced- cannot function as normal with
important missing pieces.
• The translocation of chr 21 onto the 14th chr
causes the common genetic mutation of down
syndrome.
B.Chromosomal Mutations II
Øconsists of aneuploidy and polyploidy.
• The general category of these is called
heteroploidy since they cause a mutation by
changing the number of chrs present in the cell.
Aneuploidy
• either causes the loss or addition of a chr by the
contortion of the chr set.
• Nondisjunction during meiosis or mitosis usually
results in this mutation.
Polyploidy
• causes the creation of 2 sets of genomes.
• is not usually common naturally however, it can be
observed in some plants.
• usually causes effects like giantism and the
reduction of fertility. by Abiyot G.
 The Advantages of Chromosomal Mutations
• Some mutations can help the organisms to survive
better than others.
e.g.Lactose tolerance became an advantage to have
over others when numerous populations depended
on cows and goats as sources of food.
• On the other hand, it can be dangerous and even
detrimental to the life of living orgamsms.
Genetic Disorder
• are specific disorders or disabilities caused by
mutations within the organism's DNA.
• can be small genetic issues that may barely affect
the individual or
• larger issues that may bring major concerns to the
individual.
• A chromosomal disorders list can be seen below:
->Trisomy 21:Down Syndrome, Trisomy 18,
Trisomy 13, Klinefelter Syndrome, XYY Syndrome,
Turner Syndrome, Triple X Syndrome
 4.1.7.Genetic Drift
• is a mechanism of evolution in w/c allele
frequencies of a population change over
generations due to chance events.
• is change due to "sampling error" in selecting the
alleles for the next generation from the gene pool
of the current genern.
• Allele frequencies can change due to chance alone.
-> This is called genetic drift.
• Drift is a binomial sampling error of the gene pool.
i.e. the alleles that form the next genern's gene pool
are a sample of the alleles from the current genern.
• When sampled from a popn, the frequency(f) of alleles
differs slightly due to chance alone.
• Alleles can increase or decrease in f due to drift.
• The average expected change in allele f is zero,
since increasing or decreasing in frequency is equally
probable. by Abiyot G.
• A small percentage of alleles may continually change f
in a single direction for several genern's.
• A very few new mutant alleles can drift to fixation
in this manner.
• The variance in the rate of change of allele f-ies
is greater in small popn than in large popns.
v e.g. Fig. we have a very small rabbit popn that's
made up of 8 brown individuals (BB or Bb) and 2
white individuals (bb).
Ø Initially, the f-ies of the B & b alleles are equal.
Ø What if, by chance, only the 5 circled survive and
reproduce
Ø The allele f-ies of the 5 lucky rabbits are perfectly
represented in the 2nd generation.
Ø B/c the 5-rabbit "sample" in the previous genern had
d/t allele f-ies than the popn as a whole (i.e "sampling
error"), the f-ies of B & b in the popn have shifted to
0.7 & 0.3 respectively. by Abiyot G.
ØFrom this 2nd genern, what if only 2 of the BB
offspring survive and reproduce to yield the 3rd
genern?
• by the 3rd genern, the b allele is completely lost
from the popn.
• Smaller individuals in the rabbit popn reproduce.
(Maybe the other rabbits died for reasons unrelated to
their coat color, e.g., they happened to get caught in a
hunter's snares.)
• However, the overall rate of genetic drift is
independent of popn size.
• If the mutation rate is constant, large & small
popns lose alleles to drift at the same rate.
Øb/c large popns will have more alleles in the gene
pool, but they will lose them more slowly.
Øpopns will have fewer alleles, but these will quickly
cycle through.
ØThis assumes that mutation is constantly adding
new alleles to the gene pool and selection is not
operating on any of these alleles. by Abiyot G.
 Hardy-Weinberg Equilibrium
• named after mathematician Godfrey H. Hardy and
physician Wilhelm Weinberg.
• At this Equilibrium, Allele f-ies do not change
• The study of popn genetics relies on the intimate r/p
b/n allele f-ies & genotype f-ies.
genotype's f = the number of individuals with that
genotype
the total size of the popn
e.g. if 64 of the 100 individuals in a popn are
homozygous recessive, then the f of that genotype
is 64/100, or 0.64.
• H-W equilibrium is the highly unlikely situation in
w/c allele f-ies & genotype f-ies do not change
from one generation to the next.
• It occurs only in popns that meet the ff assumptions
(1) Natural selection does not occur;
(2) Mutations do not occur, so no new alleles arise;
(3)The popn is infinitely large, or at least large
enough to eliminate random changes in allele f-ies
(4)Individuals mate at random; and
(5)Individuals do not migrate into or out of the popn.
• Hardy & Weinberg independently dev’d two simple
equations that represent the r/p b/n allele f-ies &
genotype f-ies.
• To understand their logic, begin by assuming that a
gene has only 2 possible alleles, with f-ies p & q.
• The 1st equation represents the f-ies of both alleles
in the popn: p+q=1
e.g. the f of the dark fur allele (D) is 0.6; the f of the
alternative allele d, which confers tan fur, is 0.4.
• At Hardy-Weinberg equilibrium, we can use allele f-
ies to calculate genotype f-ies
• according to the 2nd equation-> p2 + 2pq + q2 = 1
• f of genotyep DD=p2 , dd= q2 & Dd=2pq
• Since the homozygotes & the heterozygotes account
for all possible genotypes, the sum of their f-ies must
add up to 1.
• At Hardy-Weinberg equilibrium, allele f-ies remam
constant from one generation to the next; evoln does
not occur."

by Abiyot G.
 The genetic bottleneck effect
• The bottleneck effect
Øis an extreme example of genetic drift
Øhappens when the size of a popn is severely
reduced.
• Events like natural disasters (earthquakes, floods,
fires) can decimate a popn, killing most individuals
and leaving behind a small, random assortment of
survivors. by Abiyot G.
• The allele f-ies prior to the natural disasters may be
very d/t from those of the popn after the event, &
some alleles may be missing entirely.
• The smaller popn will also be more susceptible to
the effects of genetic drift for generations,
potentially causing even more alleles to be lost.
• Imagine a bottle filled with marbles, w/c, represent
individuals in a popn.
• If a bottleneck event occurs, a small, random
assortment of individuals survive the event &
pass through the bottleneck (and into the cup), while
the vast majority of the popn is killed off (remains
in the bottle).
• The genetic composition of the random survivors
is now the genetic composition of the entire popn.
• A popn bottleneck yields a limited & random
assortment of individuals. by Abiyot G.
• This small popn will now be under the influence of
genetic drift for several generations.

Fig. Bottleneck effect

eliminates genes from a
population

G .
i yot
A b
by
 The founder effect
• is another extreme example of genetic drift
• occurs when a small group of individuals breaks
off from a larger popn to establish a colony.
ØThe new colony is isolated from the original popn,
Øand the founding individuals may not represent
the full genetic diversity of the original popn.
- i.e. alleles in the founding popn may be present at
d/t f-ies than in the original popn, & some alleles
may be missing altogether.
ØThe small size of the new colonies means that they
will experience strong genetic drift for generations.
• is similar in concept to the bottleneck effect, but
it occurs via a d/t mechanism (colonization rather
than catastrophe). by Abiyot G.
 Fig.Founder effect eliminates genes from a popn

by Abiyot G.
4.1.8.Gene flow (immigration & emigration)
• Gene flow also called migration
Øis any movement of individuals, and/or the
genetic material they carry from one popn to
another.
e.g.-> pollen being blown to a new destination or
-> people moving to new cities or countries.
• If gene versions are carried to a popn where those
gene versions previously did not exist, gene flow can
be a very important source of genetic variation.
• In Fig. below, the gene version for brown coloration
moves from one popn to another.

Fig. Gene flow

(immigration)

by Abiyot G.
• Immigration is when new organisms join a popn,
changing allele f-ies.
• Emigration is when members of a popn leave, taking
with them their genes.
• These phenomena change the overall balance of
the gene pool of the popn.
• Gene transfer is the flow of alleles from one
species to another.
• Horizontal gene transfer is especially common in
bacteria.
4.1.9.Causes of species extinction
• Evidence suggests that anthropogenic effects and
natural disaster played significant role for the
direct and indirect causes of species extinction.
by Abiyot G.
unit five is coming soon